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rs398122361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122361(C;T)
Make rs398122361(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116431086
GeneDSE
is asnp
is mentioned by
dbSNPrs398122361
ebirs398122361
HLIrs398122361
Exacrs398122361
Varsomers398122361
Maprs398122361
PheGenIrs398122361
hapmaprs398122361
1000 genomesrs398122361
hgdprs398122361
ensemblrs398122361
gopubmedrs398122361
geneviewrs398122361
scholarrs398122361
googlers398122361
pharmgkbrs398122361
gwascentralrs398122361
openSNPrs398122361
23andMers398122361
23andMe allrs398122361
SNP Nexus

SNPshotrs398122361
SNPdbers398122361
MSV3drs398122361
GWAS Ctlgrs398122361
Max Magnitude0
ClinVar
Risk rs398122361(T;T)
Alt rs398122361(T;T)
Reference rs398122361(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene DSE
CLNDBN Ehlers-Danlos syndrome, musculocontractural type 2
Reversed 0
HGVS NC_000006.11:g.116752249C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074436.4,